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DNA test could warn of blood cancer five years in advance

01 December 2014

By Dr Anna Cauldwell

Appeared in BioNews 782

Genetics researchers in the US have identified mutations that significantly increase the likelihood that an individual will go on to develop blood cancer.

The findings were made independently by two research groups who took the unusual approach of studying DNA from people not known to have cancer or blood disorders. Focusing on somatic mutations - mutations that cells acquire over time as they replicate within the body - the scientists identified a clutch of potentially dangerous changes to genes. When any one of these is present, a person has a roughly five percent risk of developing some form of blood cancer within five years.

Dr Siddhartha Jaiswal, from Massachusetts General Hospital, primary author of one study, said: 'By the time a cancer has become clinically detectable it has accumulated several mutations that have evolved over many years. What we are primarily detecting here is an early, pre-malignant stage in which the cells have acquired just one initiating mutation.'

Senior author of the second studyProfessor Steven McCarroll from Harvard Medical School, added: 'People often think about disease in black and white - that there's "healthy" and there's "disease" - but in reality most disease develops gradually over months or years.'

Accordingly, the findings, published in the New England Journal of Medicine, show that the frequency of risk-causing mutations increases with age; they are rare in those under the age of 40, but become increasingly common and are carried by more than ten percent of those over the age of 70.

While there's currently no way to prevent cancer developing for anyone carrying one of these mutations, Professor McCarroll says that the findings 'demonstrate a way to identify high-risk cohorts - people who are at much higher than average risk of progressing to cancer - which could be a population for clinical trials of future prevention strategies'.

In addition, Dr Benjamin Ebert's team also found that people with the mutations were more likely to die of any cause over the next eight years and had more than twice the normal risk of heart and strokes. The scientists say that further research is required to understand the nature of these associations.


24 February 2014 - by Chris Hardy 
Researchers trialling a gene therapy-based treatment for leukemia have said the early results go beyond anything they could have thought of in their 'wildest dreams'...
22 April 2013 - by Siobhan Chan 
Scientists have identified an eight-gene 'signature' that can predict patients' response to chemotherapy...
06 June 2012 - by Dr Victoria Burchell 
A wealth of whole genome data – or the entire genetic codes – from children with cancer has been released by scientists in the US. The researchers claim the database more than doubles the volume of highly detailed, whole genome data available worldwide...
04 April 2011 - by Maren Urner 
Researchers from the Wellcome Trust Sanger Institute have identified three different genetic mutations linked to acute myeloid leukaemia (AML), a cancer that is characterised by a rapid increase in abnormal white blood cells in the bone marrow....

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